Each row in the table represents a single mutation arbitrarily assigned with a unique identification number.
Files have been sorted by reference number

File #

Unique identification number for this mutation

Mutation position

Nucleotide position using the p53 cDNA as a reference (1 is the A of the start ATG)

Codon

Codon position (1 to 393)

Exon

Exon

Mutations/variations in intron are not included in the UMD p53 database as the majority of them have not been associated with splicing defects.

WT codon

Normal base sequence of the codon in which the mutation occurred

Mutant codon

Sequence of the mutated codon. If the mutation is a deletion or an insertion, it is indicated by "del" or "ins" followed by the number of deleted or inserted bases. The position in the codon is indicated by “a”, “b”, or “c” for the first, second or third base of the codon respectively. Example: "del66b" is a deletion of 66 bases including the second base of the codon; "ins4a" is an insertion of 4 bases occurring between the first and the second base of the codon. Label a, b, or c is omitted if the boundary of the deletion or insertion is unknown.

Name of the tumor/patient/cell line as given by the authors. If the publication does not include any sample name, we have arbitrarily assigned a name, usually the first letters of the last author's name, followed by the numbers in the series. The same name or number can occur several times in a single study as in some samples more than one mutation has been reported (see complexity to find samples with multiple mutations).
For cell lines, we used the name given in the publication. Unfortunately, there is some confusion as similar cell lines can appear with multiple names (acronym or ATCC references, change/errors in the acronym). Care has been taken to ensure some homogeneity

Variation type

Mutation: the nucleotide variation is associated with a change of the amino-acid: Polymorphism: the nucleotide variation is not associated with a change in the amino-acid sequence.

Exonic mutations that do not changed amino acid sequences are not always neutral. The p53 mutation at codon 125 (ACG->ACA, T125T) was described by many authors as a polymorphic variant. RNA analysis of this mutation, located at the 3’ extremity of exon 4, shows that the splicing of the p53 gene is totally aberrant (Warneford et al., 1992)

Event

Mutational event: G>C: (G to C base change); C->A/C->T: complex mutation that change two nucleotide in the codon (C to A and C to T base change); Stop at 344: frameshift mutation leading to a premature stop codon and the synthesis of a truncated protein of 344 residues; In frame del or In frame Ins: deletion/insertion of that do not change the open reading frame of the p53 protein.

Type

Ts: Transition (a pyrimidine (C or T) is substituted by another pyrimidine, or a purine (A or G) is substituted by another purine); Tv: Transversion (a transversion mutation involves the change from a pyrimidine to a purine, or vice versa); Fr: Frameshift mutations (deletion / insertion); Ts/Ts: for mutation that target two nucleotides in the same codon; InF: deletion/insertion of that do not change the open reading frame of the p53 protein.

Complexity

SM: Single mutational event in the tumor; DMU (Double Mutation Unknown): Two p53 mutations in the same tumor but their allelique distribution is unknown; DMD (Double Mutation Different allele): Two p53 mutations in the same tumor on two different p53 allele; DMD (Double Mutation Same allele): Two p53 mutations in the same tumor on the same p53 allele: MM (Multiple Mutation): More than two p53 mutations in the same tumor.

Yes: transition (G to A or C to T base change) at a CpG dinucleotide; No: transitions (G to A or C to T base change) at non CpG Sites and all transversion

Py-Py doublets

Indicates whether or not a mutation target a Py-Py doubletPy-Py doublet: two adjacent pyrimidine residues (cytosine or thymine) that can be targeted by UV light.Yes, non coding strand: mutation localized at a Py-Py doublets on the non coding strand of the p53 gene; Yes, coding strand: mutation localized at a Py-Py doublets on the coding strand of the p53 gene; No: mutation localized outside a Py-Py doublet

Origin of the sample with the p53 mutations; Tumor: tumor tissue (biopsy, surgical specimen, cytology specimen) from cancer patients; Cell line: self explanatory; For cell lines, when the status of the original tumor is also known, a second entry with the same name but labeled as « tumor » is included in the database; Germline: constitutional p53 mutation associated with familial cancer such as Li-Fraumeni syndrome (LFS), Li-Fraumeni like syndrome (LFSL).

Cancer

Cancer name

Genetic background

Tumors can occur in patients with particular syndromes or with known germline mutations in other tumor suppressor genes or after.BRCA1: patients with a germline mutation in the BRCA1 geneBRCA2: patients with a germline mutation in the BRCA2 geneXP-C: Xeroderma Pigmentosum type CXP-D: Xeroderma Pigmentosum type DXP-E: Xeroderma Pigmentosum type EXP-V: Xeroderma Pigmentosum variantPTEN: patients with a germline mutation in the Phosphatase and TENsin homolog gene associated with a Cowden diseaseCHK2: patients with a germline mutation in the checkpoint kinase 2 gene associated with a Li-Fraumeni syndromeFA-C: Fanconi anemia type CFamilial Breast cancer: familial cancer with no mutation identifiedPTCH: patients with a germline mutation in the patched geneP152L gl mutation: Patients with a p53 germline mutation at codon 152 and prone for adrenocortical tumors with several secondary p53 mutations in their tumors.NF1: patients with a germline mutation in the NF1 geneRDEB: patients with recessive dystrophic epidermolysis bullosaHNPCC: hereditary non polyposis colon cancer

Tumor type

Solid: Non hematological tumorLeu: all leukemia and lymphoma

Tumor site

Int.: all internal tumorsSkin: all skin tumors

Smoking status

Information on the smoking status of the patient Yes, No,Unknown or Ex smoker

Aflatoxin status

Exposition of the patient to Aflatoxin B1: Yes, No or Unknown

Radiations

Exposition of the patient to radiation: Yes, No or Unknown

Drinking status

Information on the drinking status of the patient Yes, No or Unknown

Asbestos

Exposition of the patient to Asbestos: Yes, No or Unknown

Hepatitis B

Detection of HBV in the tumor; Yes, No or Unknown

Papilloma

Detection of HPV in the tumor; Yes, No or Unknown

Pro72 Const

Germline genotype at codon 72 (exon 4): Arg/Arg, Arg/Po or Pro/Pro

Pro72 Tum

Genotype of codon 72 associated with the p53 mutant: Arg or Pro.

Number of records

Number of tumors with this particular mutant the database

Ref#

Reference identification number

Authors

Authors

Year

Year

Title

Title

Journal

Journal

Volume

Volume

Page(s)

Page(s)

Medline

Medline

Mutant activities (mutant)

Data on AQ to AX columns are taken from the work of Kato et al.,( Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C (2003) Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci U S A 100: 8424-8429).
Transactivation was tested using a yeast assay. The residual transcriptional activity of mutant p53 is always compared to wild type p53 for the same promoter (%).Wt: mutation that does not change the amino acid: Be aware that some of these mutation can change splicing or RNA stabilityFr: Frameshift mutations. No activity data is available but it is usually assumed that no p53 is producedTr: Terminating mutation: No activity data is available but it is usually assumed that no p53 is producedND: No data available for this mutant

The UMD p53 database is protected by the European Union Council Directive N° 96/9/EC, OJ (L77) 20 (1996). Extracting, copying or reuse of data from databases without permission are covered by this directive